About congenital heart disease

Children with congenital heart disease are born with defects in the structure of their hearts. The defects happen very early in pregnancy, when the heart is being formed.

There are many different types of heart defect.

The most common type is a hole in the heart. The hole might be between the top chambers of the heart, or between the bottom chambers.

Some defects affect the heart valves. For example, the valves might be narrower than normal or cause blood to leak.

Less often, children might have blood vessels that are too narrow. Or entire parts of their hearts might not have formed properly.

Children who have severe congenital heart disease might have more than one defect in their hearts.

Congenital heart disease is common. It affects almost 1 in every 100 newborns in Australia.

Symptoms of congenital heart disease

If your baby or child has mild congenital heart disease, she probably won’t have any symptoms. Some children might have a heart murmur, but you can’t hear this without a stethoscope.

Babies with more severe congenital heart disease might have symptoms in the first few weeks after birth. Symptoms of more severe congenital heart disease in babies can include:

  • poor feeding
  • poor weight gain
  • fast breathing
  • blue skin, lips and nails.

Sometimes symptoms of congenital heart disease don’t show up until children are older – around 5-10 years of age. If your child is older, you might notice that your child:

  • gets tired easily
  • is short of breath while exercising
  • can’t keep up with friends while playing sports.

Does your child need to see a doctor about symptoms of congenital heart disease?

Yes. If your child has any of the symptoms of congenital heart disease above, you should see your GP.

Go to a hospital emergency department or call 000 for an ambulance straight away if your child is having trouble breathing, suddenly becomes pale or blue, or you’re concerned your child is very unwell.

Diagnosing congenital heart disease

Some heart defects are easier to pick up than others.

Diagnosis before birth
Around half of babies with congenital heart disease are diagnosed during ultrasound scans, which are  standard tests in pregnancy. If your baby is diagnosed before birth, a paediatric cardiologist will talk with you about the diagnosis and what to do next.

You might also be offered antenatal testing to rule out any genetic conditions.

Diagnosis after birth
Congenital heart disease can also be diagnosed after birth, when your midwife or paediatrician does standard checks on your baby’s heart just after birth and/or during your baby’s first few weeks. They might notice the symptoms of a heart defect during these checks.

If your health professional suspects congenital heart disease shortly after birth or at a later age, your child might have tests like an ECG or a chest X-ray. Your child might also be referred to a paediatric cardiologist for an echocardiogram.

It can be a shock to hear that your baby or child has a heart condition, particularly if your child has a severe heart defect. You might be worried about your child’s future. It can help to connect with other parents in similar situations by joining a face-to-face or online support group.

Support and treatment for congenital heart disease

Your child’s treatment will depend on how severe the congenital heart disease is.

If your child has mild congenital heart disease, she might not need any treatment. Your cardiologist will continue to monitor your child’s heart as she grows.

Children with more severe congenital heart disease might need one or both of the following treatments:

  • Heart surgery – this is when doctors open a child’s chest to get to the heart and fix the defect.
  • Catheterisation – this is when doctors insert a long, thin tube (called a catheter) into a blood vessel in the leg to get to the heart and fix the defect.

Some children might need surgery or catheterisation immediately after birth. Other children might need these procedures within the first few months of life. A small number of children with more complex problems might need to have multiple surgeries or procedures over their lives.

Most children with congenital heart disease go on to live long, active and healthy lives. Their ability to exercise and have fun isn’t affected at all. Some children with more severe heart defects might have to be careful about what and how much exercise they do. Your cardiologist will talk to you about how your child’s congenital heart disease will affect your child’s everyday life.

Causes of congenital heart disease

Most of the time doctors don’t know why children have congenital heart disease.

Around 20% of children with congenital heart disease also have a genetic disorder like Down syndrome, trisomy 18 or CHARGE syndrome.

Environmental factors probably play a role in some cases of congenital heart disease. Women are at increased risk of having a baby with congenital heart disease if they:

  • have diabetes
  • get rubella while they’re pregnant
  • take medications like thalidomide or retinoic acid (vitamin A) while they’re pregnant.

If you’re pregnant or planning to get pregnant, your health professionals will talk to you about avoiding medications like retinoic acid and thalidomide, and staying away from anyone with rubella. If you have diabetes, your health professionals will help you manage your condition.